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Article: Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

TitleDeoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome
Authors
KeywordsDTYMK
Clinical whole-exome sequencing
Mitochondrial DNA depletion syndrome
Salvage pathway
Issue Date2019
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2019, v. 496, p. 93-99 How to Cite?
AbstractBackground: Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of mitochondrial DNA without qualitative defects. Diagnosis of these diseases poses a challenge and whole exome sequencing is often needed for their diagnoses. Case: Two siblings of a quartet family, presenting with hypotonia, microcephaly and severe intellectual disability, have been diagnosed to harbor two heterozygous variants in trans in the DTYMK gene of the thymidine biosynthesis pathway. Mitochondrial DNA depletion has been demonstrated in silico in the more severe sibling. Conclusions: We suggest the consideration of incorporating DTYMK as one of the associated genes of mitochondrial DNA depletion syndrome (MDDS). DTYMK may be the missing link in the mitochondrial nucleotide salvage pathway but further characterization and additional evidence would be needed.
Persistent Identifierhttp://hdl.handle.net/10722/273013
ISSN
2017 Impact Factor: 2.926
2015 SCImago Journal Rankings: 1.040

 

DC FieldValueLanguage
dc.contributor.authorLam, CW-
dc.contributor.authorYEUNG, WL-
dc.contributor.authorLing, TK-
dc.contributor.authorWong, KC-
dc.contributor.authorLAW, CY-
dc.date.accessioned2019-08-06T09:20:54Z-
dc.date.available2019-08-06T09:20:54Z-
dc.date.issued2019-
dc.identifier.citationClinica Chimica Acta, 2019, v. 496, p. 93-99-
dc.identifier.issn0009-8981-
dc.identifier.urihttp://hdl.handle.net/10722/273013-
dc.description.abstractBackground: Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of mitochondrial DNA without qualitative defects. Diagnosis of these diseases poses a challenge and whole exome sequencing is often needed for their diagnoses. Case: Two siblings of a quartet family, presenting with hypotonia, microcephaly and severe intellectual disability, have been diagnosed to harbor two heterozygous variants in trans in the DTYMK gene of the thymidine biosynthesis pathway. Mitochondrial DNA depletion has been demonstrated in silico in the more severe sibling. Conclusions: We suggest the consideration of incorporating DTYMK as one of the associated genes of mitochondrial DNA depletion syndrome (MDDS). DTYMK may be the missing link in the mitochondrial nucleotide salvage pathway but further characterization and additional evidence would be needed.-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectDTYMK-
dc.subjectClinical whole-exome sequencing-
dc.subjectMitochondrial DNA depletion syndrome-
dc.subjectSalvage pathway-
dc.titleDeoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.emailWong, KC: wkc872@hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2019.06.028-
dc.identifier.pmid31271740-
dc.identifier.scopuseid_2-s2.0-85068392235-
dc.identifier.hkuros300404-
dc.identifier.volume496-
dc.identifier.spage93-
dc.identifier.epage99-
dc.publisher.placeNetherlands-

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